The tao of MPS: Common novel variants

L. A. Devesse, D.J. Ballard, L.B. Davenport, K.B. Gettings, L.A. Borsuk, P.M. Vallone, D. Syndercombe Court

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The introduction of massively parallel sequencing (MPS) to forensic genetics has led to improvements in multiple aspects of DNA analysis, however additional complexities are concurrently associated with these advances. In relation to STR analysis, the move to assign alleles using sequence rather than length based methodologies has highlighted the extent to which previous allelic variation was masked. In this work, a series of samples (n = 1000) from five different population groups (Caucasian, West African, North East African, East Asian and South Asian) were genotyped for 27 forensically validated autosomal STRs. Results were compared to data from the National Institute of Standards and Technology (NIST), with this collaborative project now providing one of the most expansive data sets generated using MPS technology to date. The large number of these variants characterised at select markers brings into question the strategies for producing representative population data, yet also provides an opportunity to utilise this diversity in unique ways. Results from this collaborative study have demonstrated that the number of samples necessary to capture the breadth of allelic variation is highly dependent on the individual marker and the extent of its sequence variability.
Original languageEnglish
JournalForensic Science International: Genetics Supplement Series
Early online date13 Oct 2017
Publication statusE-pub ahead of print - 13 Oct 2017


  • Massively parallel sequencing
  • STR


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